BC: Support | The Progeria Research Foundation Progeria.B Genetic Alliance National Organization for rARE DISORDERS (nORD) mADISON'S fOUNDATION
FC: Progeria Jessica Hamilton
1: What is Progeria? | Progeria also known as Hutchinson Gilford Syndrome is an extremely rare genetic condition wherein symptoms resemble aspect of aging are manifested at an early age.
2: How is it Inherited? | Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Even though most forms of Progeria are mutations. some forms still may be autosomal recessive.
3: What are the symptoms? | The earliest symptoms include failure to thrive and scleroderma skin-like condition. As the child passes infancy, additional appearances become apparent such as limited growth, alopecia, and distinctive physical appearances such as; small face, small jaw, and pinched nose. Later on as the child matures they have small fragile bodies typical of elderly people and develop wrinkled skin and cardiovascular problems.
4: How is Progeria Diagnosed? | Diagnosis is suspected through signs and symptoms, such as skin changes and abnormal growth.
5: How is it treated? | No treatments has yet been proved effective. Many of attempts of treatment focus on reducing complications with heart bypass surgery and low-dose aspirin. The children may also benefit from a low calorie diet.
6: There is sadly no known cure. Few children with progeria exceed over 13 years of age. And at least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke. | What is the prognosis?
7: Life with progeria for children is pretty much the same, the only difference is that they must live with the thought of death in their heads, other children may be scared of them, and frequent visits to the hospital to take care of any cardiovascular problems that may occur. | What is the life like?